D86Y (p.Asp86Tyr) variant of ATP7A (Copper-transporting ATPase 1)
D86Y (p.Asp86Tyr) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D86Y (p.Asp86Tyr) variant details
- p.Asp86Tyr
- gnomAD X-77988377-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.57
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available